"Gharavi Laboratory, Columbia University"[submitter] AND "NOTCH3"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592008	NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val)	NOTCH3 (D1163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591191	NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg)	NOTCH3 (C853R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374440	NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)	NOTCH3 (R728C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 591197	NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)	NOTCH3 (C624Y)	Single nucleotide variant (missense variant)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 591477	NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser)	NOTCH3 (G385S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591756	NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg)	NOTCH3 (P359R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591577	NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del)	NOTCH3 (R13del)	Microsatellite (inframe_deletion)	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 +2 more	GUncertain significance

ClinVar